Linked Data
dbSNP Id:
rs1191051731
gnomAD v2:
2-241818263-A-AGTGGCACACACCTGTCC
gnomAD v4:
2-240878846-A-AGTGGCACACACCTGTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878846_240878847insGTGGCACACACCTGTCC , CM000664.2:g.240878846_240878847insGTGGCACACACCTGTCC | GRCh38 |
| NC_000002.11:g.241818263_241818264insGTGGCACACACCTGTCC , CM000664.1:g.241818263_241818264insGTGGCACACACCTGTCC | GRCh37 |
| NC_000002.10:g.241466936_241466937insGTGGCACACACCTGTCC | NCBI36 |
| NG_008005.1:g.15102_15103insGTGGCACACACCTGTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*25_*26insGTGGCACACACCTGTCC MANE Select | ENSP00000302620.3:n.*25_*26insGTGGCACACACCTGTCC | |
| ENST00000307503.3:c.*25_*26insGTGGCACACACCTGTCC | ENSP00000302620.3:n.*25_*26insGTGGCACACACCTGTCC | |
| ENST00000470255.1:n.982_983insGTGGCACACACCTGTCC | ||
| NM_000030.2:c.*25_*26insGTGGCACACACCTGTCC | NP_000021.1:n.*25_*26insGTGGCACACACCTGTCC | |
| NM_000030.3:c.*25_*26insGTGGCACACACCTGTCC MANE Select | NP_000021.1:n.*25_*26insGTGGCACACACCTGTCC |